Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry

Journal of Molecular Diagnostics · Published 2026-07-01 · DOI 10.1016/j.jmoldx.2026.06.008

Authors (9)

Yunli Lai, Yajun Cheng, Xuexi Yang, Biyan Cheng, Rui Zhong, Shijie Wei, Ting Que, Sheng He, Wanjun Zhou

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Publication details

Year
2026

Citation

Lai, Y., Cheng, Y., Yang, X., et al. (2026). Simultaneous Detection of SMN1, SMN2, NAIP, H4F5, and GTF2H2 Copy Numbers and SMN1 Loss-of-Function Variants for SMA by MALDI-TOF Mass Spectrometry. Journal of Molecular Diagnostics. https://doi.org/10.1016/j.jmoldx.2026.06.008

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